Directory of funded grants

Mind Over Matter Magazine (Volume 15)

Loss of C9orf72 disrupts nucleoporins and contributes to TDP-43 mislocalization

Project Overview

Subcellular compartmentalization between the nucleus and cytoplasm is primarily governed by two systems; 1) active nucleocytoplasmic transport (NCT) regulated by Ran-GTPase and involving nuclear transport receptors such as Importin β-1, and 2) macromolecular nuclear pore complexes (NPCs), comprised of >30 nucleoporin (Nups) embedded in the nuclear envelope. FG-Nups, the largest…

Rational targeting of FUS and TDP-43 protein assemblies for diagnostics and treatment of ALS

Project Overview

The project addresses a grand challenge in ALS, the integration of a multi-targeted and personalized approach to patients with a rational strategy focusing on a unifying pivotal mechanism of the disease. We seek to test the extended “prion hypothesis”, which suggests that ALS progression is driven by a self-propagating buildup…

Elucidating the basis for ubiquitination of misfolded ALS proteins by E3 ligase Enzymes

Project Overview

A pathologic feature in both sporadic and familial ALS patients is the presence of large neuronal inclusions enriched with misfolded proteins, including SOD1, TDP43 and FUS that are frequently modified with the small protein ubiquitin (Ub). This observation, also common to Parkinson’s disease, indicates impairment in the ubiquitin-proteasome system that…

Neuromuscular proteins as potential biomarkers in ALS

Project Overview

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons (MNs). Symptoms include muscle paralysis which rapidly progresses and ultimately results in respiratory failure within 2-5 years after diagnosis. Even if several genes causing ALS have been identified, still up to ~90%…